Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut SRRM2 23524 broad.mit.edu 37 16 2814039 2814039 + Missense_Mutation SNP A A T TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4853fd17-7214-4f0c-984b-1be0346ca4ab ebcde902-4750-4e90-b94c-a635aa053ea4 g.chr16:2814039A>T ENST00000301740.8 + 11 4059 c.3510A>T c.(3508-3510)ttA>ttT p.L1170F NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 1170 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 AAATGGCCTTACCCCCTCAGG 0.463000 45 68 0 0 1 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81052015 81052015 + Missense_Mutation SNP G G A TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4853fd17-7214-4f0c-984b-1be0346ca4ab ebcde902-4750-4e90-b94c-a635aa053ea4 g.chr10:81052015G>A ENST00000334512.5 + 11 1431 c.859G>A c.(859-861)Gca>Aca p.A287T ZMIZ1_ENST00000478357.1_3'UTR NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 287 Ala-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) tgcagcagcggcagtggcagc 0.652000 9 87 0 0 1 0 0 DCTD 1635 broad.mit.edu 37 4 183815663 183815663 + Missense_Mutation SNP C C T TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4853fd17-7214-4f0c-984b-1be0346ca4ab ebcde902-4750-4e90-b94c-a635aa053ea4 g.chr4:183815663C>T ENST00000438320.2 - 4 630 c.340G>A c.(340-342)Gct>Act p.A114T DCTD_ENST00000510370.1_Missense_Mutation_p.A114T|DCTD_ENST00000357067.3_Missense_Mutation_p.A125T NM_001921.2 NP_001912.2 P32321 DCTD_HUMAN dCMP deaminase 114 nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process cytosol dCMP deaminase activity|zinc ion binding p.A114T(1) endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1) 18 all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202) all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419) ATGAGCTTAGCGCATTCATTA 0.468000 11 22 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56203279 56203279 + Silent SNP T T C rs36075387 byFrequency TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4853fd17-7214-4f0c-984b-1be0346ca4ab ebcde902-4750-4e90-b94c-a635aa053ea4 g.chr18:56203279T>C ENST00000361673.3 - 5 4353 c.4140A>G c.(4138-4140)caA>caG p.Q1380Q RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1380 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 CCATCTTGAGTTGTTTTTCCT 0.413000 4 98 0 0 1 0 0 WIF1 11197 broad.mit.edu 37 12 65460426 65460426 + Missense_Mutation SNP T T C TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4853fd17-7214-4f0c-984b-1be0346ca4ab ebcde902-4750-4e90-b94c-a635aa053ea4 g.chr12:65460426T>C ENST00000286574.4 - 6 1099 c.725A>G c.(724-726)gAc>gGc p.D242G NM_007191.4 NP_009122.2 Q9Y5W5 WIF1_HUMAN WNT inhibitory factor 1 242 EGF-like 2. multicellular organismal development|Wnt receptor signaling pathway extracellular region protein tyrosine kinase activity cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 21 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) GTTACCTTTGTCACAGTTCAC 0.373000 T HMGA2 pleomorphic salivary gland adenoma 4 29 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101437335 101437335 + Silent SNP T T A TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4853fd17-7214-4f0c-984b-1be0346ca4ab ebcde902-4750-4e90-b94c-a635aa053ea4 g.chr12:101437335T>A ENST00000392979.3 + 12 1429 c.1068T>A c.(1066-1068)gcT>gcA p.A356A ANO4_ENST00000392977.3_Silent_p.A391A|ANO4_ENST00000299222.9_5'UTR NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 391 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 TCTGCCAAGCTACAGATATCA 0.373000 HNSCC(74;0.22) 15 36 0 0 1 0 0 RFPL3 10738 broad.mit.edu 37 22 32754036 32754036 + Translation_Start_Site SNP G G A rs11089557 by1000genomes TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4853fd17-7214-4f0c-984b-1be0346ca4ab ebcde902-4750-4e90-b94c-a635aa053ea4 g.chr22:32754036G>A ENST00000249007.4 + 0 183 RFPL3_ENST00000397468.1_Intron NM_001098535.1 NP_001092005.1 O75679 RFPL3_HUMAN ret finger protein-like 3 zinc ion binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1) 15 GAGTGACAAAGCTGGAACACA 0.453000 4 109 0 0 1 0 0 THBS2 7058 broad.mit.edu 37 6 169621604 169621604 + Missense_Mutation SNP C C T TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4853fd17-7214-4f0c-984b-1be0346ca4ab ebcde902-4750-4e90-b94c-a635aa053ea4 g.chr6:169621604C>T ENST00000366787.3 - 21 3541 c.3292G>A c.(3292-3294)Gac>Aac p.D1098N XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'UTR NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 1098 TSP C-terminal. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) TTCCTGGGGTCGTGCCATAAG 0.562000 4 61 0 0 1 0 0 GRIA3 2892 broad.mit.edu 37 X 122616848 122616848 + Missense_Mutation SNP T T A TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4853fd17-7214-4f0c-984b-1be0346ca4ab ebcde902-4750-4e90-b94c-a635aa053ea4 g.chrX:122616848T>A ENST00000264357.5 + 15 2930 c.2638T>A c.(2638-2640)Tac>Aac p.Y880N GRIA3_ENST00000371256.5_Missense_Mutation_p.Y880N|GRIA3_ENST00000371251.1_Missense_Mutation_p.Y880N|GRIA3_ENST00000542149.1_3'UTR NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 880 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) TTATGCTACATACAGAGAAGG 0.418000 52 80 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 148037323 148037323 + Missense_Mutation SNP C C T TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4853fd17-7214-4f0c-984b-1be0346ca4ab ebcde902-4750-4e90-b94c-a635aa053ea4 g.chrX:148037323C>T ENST00000370460.2 + 11 2227 c.1748C>T c.(1747-1749)cCc>cTc p.P583L AFF2_ENST00000370457.5_Missense_Mutation_p.P550L|AFF2_ENST00000286437.5_Missense_Mutation_p.P224L|AFF2_ENST00000342251.3_Missense_Mutation_p.P550L NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 583 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) CCAGCTGAACCCAAAGAAAGG 0.483000 87 117 0 0 1 0 0 VSX1 30813 broad.mit.edu 37 20 25059381 25059381 + Silent SNP A A T rs56157240 by1000genomes TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4853fd17-7214-4f0c-984b-1be0346ca4ab ebcde902-4750-4e90-b94c-a635aa053ea4 g.chr20:25059381A>T ENST00000376707.3 - 3 745 c.711T>A c.(709-711)ccT>ccA p.P237P VSX1_ENST00000429762.3_Intron|VSX1_ENST00000424574.1_Intron|VSX1_ENST00000444511.2_Intron|VSX1_ENST00000451258.1_Intron|VSX1_ENST00000376709.4_Intron NM_199425.2 NP_955457.1 Q9NZR4 VSX1_HUMAN visual system homeobox 1 0 CVC. response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(3)|lung(2) 6 GCTATAGAGAAGGGACTGCTG 0.512000 5 110 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4853fd17-7214-4f0c-984b-1be0346ca4ab ebcde902-4750-4e90-b94c-a635aa053ea4 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 26 28 0 0 1 0 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254054 39254054 + Missense_Mutation SNP A A T rs76270529 by1000genomes TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4853fd17-7214-4f0c-984b-1be0346ca4ab ebcde902-4750-4e90-b94c-a635aa053ea4 g.chr17:39254054A>T ENST00000333822.4 - 1 339 c.283T>A c.(283-285)Tgc>Agc p.C95S NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 95 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament p.C95S(4) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 ctggagatgcagcagcTAGGG 0.677000 4 32 0 0 1 0 0 FUNDC2P2 0 broad.mit.edu 37 2 84518074 84518074 + RNA SNP C C T TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4853fd17-7214-4f0c-984b-1be0346ca4ab ebcde902-4750-4e90-b94c-a635aa053ea4 g.chr2:84518074C>T ENST00000331369.5 + 0 268 AAAAGTATAGCGTGGCAACCC 0.512000 42 53 0 0 1 0 0 OGT 8473 broad.mit.edu 37 X 70793627 70793627 + Missense_Mutation SNP G G A TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4853fd17-7214-4f0c-984b-1be0346ca4ab ebcde902-4750-4e90-b94c-a635aa053ea4 g.chrX:70793627G>A ENST00000373719.3 + 22 3341 c.3124G>A c.(3124-3126)Gtc>Atc p.V1042I OGT_ENST00000373701.3_Missense_Mutation_p.V1032I NM_181672.2|NM_181673.2 NP_858058.1|NP_858059.1 O15294 OGT1_HUMAN O-linked N-acetylglucosamine (GlcNAc) transferase 1042 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Renal(35;0.156) GCCTGTTGAAGTCACTGAGTC 0.443000 5 15 0 0 1 0 0 ANAPC15 25906 broad.mit.edu 37 11 71821621 71821621 + Missense_Mutation SNP T T C TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4853fd17-7214-4f0c-984b-1be0346ca4ab ebcde902-4750-4e90-b94c-a635aa053ea4 g.chr11:71821621T>C ENST00000227618.4 - 4 374 c.149A>G c.(148-150)aAc>aGc p.N50S ANAPC15_ENST00000545680.1_Missense_Mutation_p.N50S|ANAPC15_ENST00000542531.1_Missense_Mutation_p.N50S|LRTOMT_ENST00000419228.1_3'UTR|ANAPC15_ENST00000538393.1_Missense_Mutation_p.N50S|ANAPC15_ENST00000545944.1_Missense_Mutation_p.N50S|ANAPC15_ENST00000543587.1_Missense_Mutation_p.N50S|LRTOMT_ENST00000307198.7_3'UTR|ANAPC15_ENST00000502597.2_5'UTR|ANAPC15_ENST00000538919.1_Missense_Mutation_p.N50S|ANAPC15_ENST00000535503.1_Missense_Mutation_p.N50S|LRTOMT_ENST00000435085.1_3'UTR|ANAPC15_ENST00000543050.1_Missense_Mutation_p.N50S|ANAPC15_ENST00000535234.1_Missense_Mutation_p.N50S NM_001278487.1|NM_001278491.1|NM_014042.2 NP_001265416.1|NP_001265420.1|NP_054761.1 anaphase promoting complex subunit 15 AGGAACCAGGTTGTTGTCTTT 0.597000 26 36 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79324331 79324331 + Silent SNP G G A TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4853fd17-7214-4f0c-984b-1be0346ca4ab ebcde902-4750-4e90-b94c-a635aa053ea4 g.chr9:79324331G>A ENST00000428286.1 - 8 2982 c.1782C>T c.(1780-1782)aaC>aaT p.N594N PRUNE2_ENST00000376718.3_Silent_p.N953N Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 953 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CTTCTCCTAGGTTGGATGCAC 0.423000 10 127 0 0 1 0 0 CUL4B 8450 broad.mit.edu 37 X 119708422 119708422 + Silent SNP A A G TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4853fd17-7214-4f0c-984b-1be0346ca4ab ebcde902-4750-4e90-b94c-a635aa053ea4 g.chrX:119708422A>G ENST00000404115.3 - 2 452 c.51T>C c.(49-51)acT>acC p.T17T CUL4B_ENST00000486604.1_5'UTR NM_003588.3 NP_003579.3 Q13620 CUL4B_HUMAN cullin 4B 17 Ser-rich. cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CTTTAGAGGTAGTAGCCTCAT 0.448000 4 110 0 0 1 0 0 GPANK1 7918 broad.mit.edu 37 6 31630129 31630129 + Missense_Mutation SNP G G C TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4853fd17-7214-4f0c-984b-1be0346ca4ab ebcde902-4750-4e90-b94c-a635aa053ea4 g.chr6:31630129G>C ENST00000375906.1 - 4 1669 c.985C>G c.(985-987)Ctg>Gtg p.L329V GPANK1_ENST00000375896.4_Missense_Mutation_p.L329V|GPANK1_ENST00000375893.2_Missense_Mutation_p.L329V|GPANK1_ENST00000375895.2_Missense_Mutation_p.L329V|GPANK1_ENST00000375900.4_Missense_Mutation_p.L329V NM_001199237.1 NP_001186166.1 O95872 GPAN1_HUMAN G patch domain and ankyrin repeats 1 329 intracellular nucleic acid binding central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7) 12 CTCCAGCTCAGTGTGGCCACC 0.577000 29 66 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 36961657 36961657 + Nonsense_Mutation SNP C C T TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4853fd17-7214-4f0c-984b-1be0346ca4ab ebcde902-4750-4e90-b94c-a635aa053ea4 g.chr5:36961657C>T ENST00000282516.8 + 5 929 c.430C>T c.(430-432)Caa>Taa p.Q144* NIPBL_ENST00000448238.2_Nonsense_Mutation_p.Q144*|NIPBL_ENST00000504430.1_3'UTR NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 144 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) CAATTATCAACAAACCACTAT 0.338000 33 57 0 0 1 0 0 NAB2 4665 broad.mit.edu 37 12 57485446 57485446 + Missense_Mutation SNP T T C TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4853fd17-7214-4f0c-984b-1be0346ca4ab ebcde902-4750-4e90-b94c-a635aa053ea4 g.chr12:57485446T>C ENST00000300131.3 + 2 1000 c.622T>C c.(622-624)Ttc>Ctc p.F208L NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Missense_Mutation_p.F208L|NAB2_ENST00000342556.6_Missense_Mutation_p.F208L NM_005967.3 NP_005958.1 Q15742 NAB2_HUMAN NGFI-A binding protein 2 (EGR1 binding protein 2) 208 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity p.F208L(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 CTCGCCCCCCTTCTCCCCCCC 0.716000 6 23 0 0 1 0 0 SLC47A1 55244 broad.mit.edu 37 17 19459308 19459308 + Splice_Site SNP G G A TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4853fd17-7214-4f0c-984b-1be0346ca4ab ebcde902-4750-4e90-b94c-a635aa053ea4 g.chr17:19459308G>A ENST00000270570.4 + 10 940 c.853_splice c.e10-1 p.G285_splice SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000571335.1_Splice_Site_p.G90_splice|SLC47A1_ENST00000542886.1_3'UTR|SLC47A1_ENST00000395585.1_Splice_Site_p.G285_splice|SLC47A1_ENST00000436810.2_Splice_Site_p.G262_splice|SLC47A1_ENST00000457293.1_Splice_Site_p.G285_splice NM_018242.2 NP_060712.2 Q96FL8 S47A1_HUMAN solute carrier family 47 (multidrug and toxin extrusion), member 1 285 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) TCTTCACCAGGCATCCTCGGC 0.592000 3 38 0 0 1 0 0 LRRC37A11P 0 broad.mit.edu 37 17 37187191 37187191 + RNA SNP G G A TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4853fd17-7214-4f0c-984b-1be0346ca4ab ebcde902-4750-4e90-b94c-a635aa053ea4 g.chr17:37187191G>A ENST00000425901.2 + 0 1033 NR_033753.2 GGGACTTACCGTCACTCCAAA 0.498000 15 15 0 0 1 0 0 SLC9A6 10479 broad.mit.edu 37 X 135106545 135106545 + Missense_Mutation SNP C C T TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4853fd17-7214-4f0c-984b-1be0346ca4ab ebcde902-4750-4e90-b94c-a635aa053ea4 g.chrX:135106545C>T ENST00000370695.4 + 12 1554 c.1519C>T c.(1519-1521)Cgg>Tgg p.R507W SLC9A6_ENST00000370698.3_Missense_Mutation_p.R475W|SLC9A6_ENST00000370701.1_Missense_Mutation_p.R455W NM_001042537.1 NP_001036002.1 Q92581 SL9A6_HUMAN solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 475 regulation of pH early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane sodium:hydrogen antiporter activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) CACTTATGCACGGCAAATGAT 0.463000 6 81 0 0 1 0 0 EPRS 2058 broad.mit.edu 37 1 220203735 220203735 + Missense_Mutation SNP C C A TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4853fd17-7214-4f0c-984b-1be0346ca4ab ebcde902-4750-4e90-b94c-a635aa053ea4 g.chr1:220203735C>A ENST00000366923.3 - 6 885 c.616G>T c.(616-618)Gcc>Tcc p.A206S NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase 206 Glutamyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) TACCCACTGGCCTCTGGAGGA 0.358000 3 46 1 1 1 1 0 TBC1D24 57465 broad.mit.edu 37 16 2550805 2550805 + Splice_Site SNP G G T TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4853fd17-7214-4f0c-984b-1be0346ca4ab ebcde902-4750-4e90-b94c-a635aa053ea4 g.chr16:2550805G>T ENST00000567020.1 + 7 1648 c.1507_splice c.e7-1 p.G503_splice TBC1D24_ENST00000434757.2_Splice_Site_p.G509_splice|RP11-20I23.1_ENST00000564543.1_Intron|TBC1D24_ENST00000293970.5_Splice_Site_p.G509_splice NM_020705.2 NP_065756.1 Q9ULP9 TBC24_HUMAN TBC1 domain family, member 24 509 TLD. neuron projection development cytoplasm protein binding|Rab GTPase activator activity endometrium(2)|kidney(4)|large_intestine(3)|lung(4) 13 CATCCTGCAGGGGGAGGAGGC 0.662000 3 16 0.004672 0.0049056 1 1 0 CROCCP2 0 broad.mit.edu 37 1 16946471 16946471 + RNA SNP G G C TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4853fd17-7214-4f0c-984b-1be0346ca4ab ebcde902-4750-4e90-b94c-a635aa053ea4 g.chr1:16946471G>C ENST00000412962.1 - 0 1048 CGCTGCAGCTGACTCTGCAGC 0.677000 5 11 0 0 1 0 0 HID1 283987 broad.mit.edu 37 17 72959892 72959892 + Silent SNP C C T TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4853fd17-7214-4f0c-984b-1be0346ca4ab ebcde902-4750-4e90-b94c-a635aa053ea4 g.chr17:72959892C>T ENST00000425042.2 - 3 407 c.330G>A c.(328-330)gaG>gaA p.E110E HID1_ENST00000532900.1_5'UTR NM_030630.2 NP_085133.1 HID1 domain containing AGTCGGGGTCCTCAAAGATGT 0.667000 3 30 0 0 1 0 0 JAK1 3716 broad.mit.edu 37 1 65303662 65303662 + Silent SNP A A G rs17392258 TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4853fd17-7214-4f0c-984b-1be0346ca4ab ebcde902-4750-4e90-b94c-a635aa053ea4 g.chr1:65303662A>G ENST00000342505.4 - 22 3341 c.3093T>C c.(3091-3093)gaT>gaC p.D1031D NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 1031 Protein kinase 2. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) AATACTCCTTATCGGTTTCAA 0.423000 Mis ALL 4 43 0 0 1 0 0 SLC22A5 6584 broad.mit.edu 37 5 131722739 131722739 + Missense_Mutation SNP T T G rs72552729 TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4853fd17-7214-4f0c-984b-1be0346ca4ab ebcde902-4750-4e90-b94c-a635aa053ea4 g.chr5:131722739T>G ENST00000245407.3 + 5 1068 c.847T>G c.(847-849)Tgg>Ggg p.W283G SLC22A5_ENST00000435065.2_Missense_Mutation_p.W307G NM_003060.3 NP_003051.1 O76082 S22A5_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 5 283 W -> C (in CDSP; reduces L-carnitine uptake).|W -> R (in CDSP). positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport apical plasma membrane|brush border membrane|integral to membrane ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1) 8 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) GTCCCCCCGATGGCTCATCTC 0.557000 OREG0016767 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 78 137 0 0 1 0 0 ATP6V1C2 245973 broad.mit.edu 37 2 10917798 10917798 + Missense_Mutation SNP C C T TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4853fd17-7214-4f0c-984b-1be0346ca4ab ebcde902-4750-4e90-b94c-a635aa053ea4 g.chr2:10917798C>T ENST00000272238.4 + 11 1022 c.913C>T c.(913-915)Cct>Tct p.P305S ATP6V1C2_ENST00000381661.3_Intron NM_001039362.1 NP_001034451.1 Q8NEY4 VATC2_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 305 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) CCCTGATAGGCCTGCTGCGGG 0.587000 30 53 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27106319 27106320 + Frame_Shift_Del DEL TT TT - TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4853fd17-7214-4f0c-984b-1be0346ca4ab ebcde902-4750-4e90-b94c-a635aa053ea4 g.chr1:27106319_27106320delTT ENST00000324856.7 + 20 6301_6302 c.5930_5931delTT c.(5929-5931)cfs p.L1977fs ARID1A_ENST00000374152.2_Frame_Shift_Del_p.L1594fs|ARID1A_ENST00000540690.1_Frame_Shift_Del_p.L305fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.L1760fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1977 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CAGGATTCTCTTGCCAAGCGCT 0.545 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 30 30 --- --- --- --- AHCTF1 25909 broad.mit.edu 37 1 247013166 247013167 + Frame_Shift_Ins INS - - T TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4853fd17-7214-4f0c-984b-1be0346ca4ab ebcde902-4750-4e90-b94c-a635aa053ea4 g.chr1:247013166_247013167insT ENST00000366508.1 - 33 6382_6383 c.6246_6247insA c.(6244-6249)aattacfs p.NY2082fs AHCTF1_ENST00000326225.3_Frame_Shift_Ins_p.NY2056fs|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Frame_Shift_Ins_p.NY2047fs Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 2047 Necessary for nuclear localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TTTTTTGTAAGTTTTTTCTTAG 0.366 14 98 --- --- --- --- AKR1B10 57016 broad.mit.edu 37 7 134222395 134222396 + Frame_Shift_Ins INS - - A TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4853fd17-7214-4f0c-984b-1be0346ca4ab ebcde902-4750-4e90-b94c-a635aa053ea4 g.chr7:134222395_134222396insA ENST00000359579.4 + 7 1043_1044 c.723_724insA c.(721-726)caaaaafs p.QK241fs NM_020299.4 NP_064695.3 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 (aldose reductase) 241 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5) 20 CTGCAAAGCACAAAAAAACCGC 0.446 8 145 --- --- --- --- AE000661.37 0 broad.mit.edu 37 14 22933391 22933391 + RNA DEL C C - rs36090939 TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4853fd17-7214-4f0c-984b-1be0346ca4ab ebcde902-4750-4e90-b94c-a635aa053ea4 g.chr14:22933391delC ENST00000514473.2 - 0 225 AE000661.37_ENST00000556777.1_RNA|TRDC_ENST00000390477.2_RNA TTAGAAATGGCTAAGAAACCA 0.408 6 2 --- --- --- --- RP4-777D9.2 0 broad.mit.edu 37 20 21142442 21142442 + RNA DEL A A - rs113752643 TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4853fd17-7214-4f0c-984b-1be0346ca4ab ebcde902-4750-4e90-b94c-a635aa053ea4 g.chr20:21142442delA ENST00000591761.1 - 0 5142 PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA TCATTTCTGGAAAAAAAAAAA 0.363 5 6 --- --- --- --- CYP2D7P1 0 broad.mit.edu 37 22 42537119 42537120 + RNA INS - - A rs142656198 by1000genomes TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4853fd17-7214-4f0c-984b-1be0346ca4ab ebcde902-4750-4e90-b94c-a635aa053ea4 g.chr22:42537119_42537120insA ENST00000435101.1 - 0 296 CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000358097.4_RNA endometrium(1) 1 GGGCTACCACCGGGGCTGATGC 0.614 2 4 --- --- --- ---